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733064004: Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\OSLAM syndrome

\Mass of body structure\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\...

\Malignant neoplasm of skeletal system\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome

\Neoplasm of bone\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\OSLAM syndrome

\Red blood cell disorder\Hereditary red blood cell disorder\OSLAM syndrome
\Red blood cell disorder\Non-anaemic red cell disorder\Macrocytosis - no anaemia\OSLAM syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\OSLAM syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\OSLAM syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\OSLAM syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\OSLAM syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\OSLAM syndrome
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\OSLAM syndrome
\Disease\Blood disease\Red blood cell disorder\Non-anaemic red cell disorder\Macrocytosis - no anaemia\OSLAM syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Malignant neoplastic disease\Malignant neoplasm of skeletal system\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Malignant neoplastic disease\Sarcoma\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Malignant neoplasm of skeletal system\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\OSLAM syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\OSLAM syndrome
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\OSLAM syndrome
\Disease\Disorder of body system\Red blood cell disorder\Non-anaemic red cell disorder\Macrocytosis - no anaemia\OSLAM syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Malignant neoplasm of skeletal system\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Neoplasm of musculoskeletal system\Neoplasm of skeletal system\Neoplasm of bone\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\OSLAM syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Neoplasm of skeletal system\Malignant neoplasm of skeletal system\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Neoplasm of skeletal system\Neoplasm of bone\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Neoplasm of bone\Malignant neoplasm of bone\Sarcoma of bone\Osteosarcoma of bone\OSLAM syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\OSLAM syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\OSLAM syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\OSLAM syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\OSLAM syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\OSLAM syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\OSLAM syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498656013 Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome en Synonym Active Case insensitive SNOMED CT core

3498657016 OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome en Synonym Active Case sensitive SNOMED CT core

3498658014 Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498659018 OSLAM syndrome en Synonym Active Case sensitive SNOMED CT core

3499951011 Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family. en Definition Active Case sensitive SNOMED CT core

3499952016 Syndrome characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. It has been described in three out of nine children from one family. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
OSLAM syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
OSLAM syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
OSLAM syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
OSLAM syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
OSLAM syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
OSLAM syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
OSLAM syndrome	Finding site	Limb structure	true	Inferred relationship	Some	2
OSLAM syndrome	Finding site	Erythrocyte	true	Inferred relationship	Some	1
OSLAM syndrome	Is a	Disorder of bone development	false	Inferred relationship	Some
OSLAM syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
OSLAM syndrome	Associated morphology	Osteosarcoma	true	Inferred relationship	Some	3
OSLAM syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
OSLAM syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
OSLAM syndrome	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
OSLAM syndrome	Is a	Macrocytosis - no anaemia	true	Inferred relationship	Some
OSLAM syndrome	Is a	Osteosarcoma of bone	true	Inferred relationship	Some
OSLAM syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
OSLAM syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
OSLAM syndrome	Is a	Hereditary red blood cell disorder	true	Inferred relationship	Some
OSLAM syndrome	Associated morphology	Osteosarcoma	false	Inferred relationship	Some	3
OSLAM syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
OSLAM syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
OSLAM syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
OSLAM syndrome	Finding site	Limb structure	false	Inferred relationship	Some	5
OSLAM syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
OSLAM syndrome	Associated morphology	Osteosarcoma	false	Inferred relationship	Some	4
OSLAM syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
OSLAM syndrome	Finding site	Erythrocyte	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498656013	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498657016	OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498658014	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498659018	OSLAM syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3499951011	Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family.	en	Definition	Active	Case sensitive	SNOMED CT core
3499952016	Syndrome characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. It has been described in three out of nine children from one family.	en	Definition	Active	Case sensitive	SNOMED CT core